Atypical Development & Neurodevelopmental Disorders

Question 1

What are neurodevelopmental disorders?

Answer 1

Become apparent early in childhood. Affect social, cognitive, language and emotional systems.
CNS is atypical in some way - the brain.

Question 2

What can cause neurodevelopmental disorders?

Answer 2

Genetic variability.
Toxic environmental factors.
Severe deprivation.
Congenital injury.

Question 3

What is classified as severe and profound intellectual disability?

Answer 3

Severe - 20-34.

Profound - 20 or less.

Question 4

Is autism more common in males or females?

Answer 4

Males.

Question 5

What is autism?

Answer 5

Mutifactorial system condition with multiple causes. Present from childhood.
Social communication skills - avoidance of eye contact.
Repetitive behaviour & restricted interest - insistence on sameness, repetitive speech, compulsive behaviours.
Other influencing factors - temperament, environment, cognition.

Question 6

What is the IQ distribution in autism like?

Answer 6

Bell curve shifts depending on type.

AD lower than average IQ. Asperger higher than average IQ.

Question 7

What is tuberous sclerosis complex caused by?

Answer 7

Mutation in TSC1 gene or TSC2 gene.

Question 8

What are some of the main effects of TSC?

Answer 8

Epilepsy. ID. High prevalence of autism.

Question 9

What is the IQ distribution in TSC like?

Answer 9

It is a bimodal distribution - shifted to the left compared to the general population (lower IQ than average).

Question 10

What is a criticism of using global IQ?

Answer 10

Potvin (2015) - there are uneven profiles of IQ in neurofibromatosis1.
NF1 shows the opposite profile to ADHD - global IQ is inadequate for describing the cognitive phenotype.
It is difficult to measure IQ in NDDs due to different profiles. High variability.

Question 11

What is attentional control (cognition)?

Answer 11

Individual’s capacity to choose what they pay attention to and what they ignore - attention shifting+ inhibition.
6-9 months - attentional shifting observed.

Question 12

What are the two main NDDs where attentional control is affected?

Answer 12

Fragile Z syndrome + Prader-Willi syndrome.

Question 13

How is fragile X syndrome caused?

Answer 13

X chromosome - FMR1 gene + CGG repeat expansion.

Has a strange pattern of inheritance due to CGG repeat expansion. Usually female carriers but it is male prevalent.

Question 14

What are the characteristics of fragile X?

Answer 14

Intellectual disability - severe.
Autism characteristics - averted eye gaze, repetitive behaviour.
Likelihood of ADHD diagnosis.
Likelihood of receiving attention-related diagnosis.
Impairment in inhibition + visual attention switching.

Question 15

How is Prader-Willi syndrome caused?

Answer 15

Chromosome 15, q11-q13. Can be either - paternal deletion, maternal uniparental disomy or imprinting abnormality.

Question 16

What are the characteristics of Prader-Willi?

Answer 16

Shift in IQ distribution by around 40 points. 
Physical phenotype. 
Temper outbursts. 
Repetitive behaviour. 
Deficits in inhibition.

Question 17

What is the main task used to test attentional control?

Answer 17

The Simon task.
Press left button when seeing blue circle, press right button when seeing green circle.
Location of stimulus presents an interference to correct response.

Question 18

Describe the main results of attention switching in FXS and PWS.

Answer 18

All groups have slower RTs for incongruent vs congruent stimuli.
PWS + FXS show greater costs of attention switching compared to controls - especially in congruent trials.
When ID is controlled for - evidence only remains for PWS.
Longer RTs are positively correlated with adherence to routine and repetitive questioning - shows evidence for difficulties in attention control in PWS.

Question 19

What is social orienting?

Answer 19

Preference for social vs non-social information.

Question 20

What is theory of mind?

Answer 20

The ability to understand others’ thoughts and desires.

Question 21

What are the two main NDDs where social processing is affected?

Answer 21

Autism + Williams syndrome.

Question 22

How is Williams syndrome caused?

Answer 22

Microdeletion of 26-28 genes on chromosome 7q11.23.

Question 23

What are the main characteristics of Williams syndrome?

Answer 23

Mild-moderate ID.
Heart problems.
Hyper sociability, hyperactivity, impulsivity, anxiety.
Strong drive and motivation for social interaction. Heightened sociability irrespective of familiarity.
Limited awareness of danger - vulnerability to exposure of dangerous or risky social situations.
Distinguishing facial features + short stature.

Question 24

What is one way of measuring social processing?

Answer 24

Eye tracking.

Question 25

How do autistic individuals process social information?

Answer 25

Klin (2002) - different eye gaze patterns - reduced looking towards eyes + increased looking at mouths, bodies + objects. Fixation times on mouths and objects (but not eyes) predict social abilities.

Question 26

How are autism and Williams syndrome different in terms of social processing?

Answer 26

Riby (2008) - autism; much less looking at faces compared to other conditions. Williams syndrome; much more time - shows sociable nature of disorder.

Question 27

What four categories does social processing include?

Answer 27

Social attention, social orienting, emotion recognition + interpretation and theory of mind.

Question 28

What three categories does social development include?

Answer 28

Social interaction skills, social enjoyment and social motivation.

Question 29

What is the main NDD where social development is affected?

Answer 29

Angelman syndrome.

Question 30

How is Angelman syndrome caused?

Answer 30

Loss of genetic information at maternal chromosome 15q11-13. Four genetic mechanisms involved in the UBE3A gene - deletion, mutation, uniparental disomy + imprinting defect.

Question 31

What are the main characteristics of Angelman syndrome?

Answer 31

Seizures. Ataxic gait. Smile much more than average - this is related to their environment. Smile more when next to a teacher or when gaining adult attention or when adult eye contact is present Smiling is appropriate to the social setting - they are aware of the social context.

Question 32

How are sociability and aggression related in Angelman syndrome?

Answer 32

People with Angelman syndrome often show challenging behaviour from a young age. Physical aggression is high (but not necessarily intentional!). Aggression is much more likely to occur when receiving low attention.

Question 33

What is social anxiety?

Answer 33

Long lasting + overwhelming fear of social situations or performance situations. Feared situation provokes anxiety. Situation is usually avoided or endured with intense anxiety and distress.

Question 34

How is Cornelia de Lange syndrome caused?

Answer 34

Deletions on chromosomes 4, 10 and X.

Question 35

What are the main characteristics of CdL syndrome?

Answer 35

Mild-severe ID. Limited speech. Small stature, upper limb abnormalities, distinctive facial features.

Question 36

In which two syndromes is the prevalence of autism particularly high?

Answer 36

Fragile X + CdLS. | Selective mutism prevalence is also particularly high for CdLS.

Question 37

What is one of the main features of CdLS?

Answer 37

Low verbalisation due to social anxiety. For example, a study showed that down syndrome shows appropriate increase in verbalisation as social demand increases but this is not seen in CdLS due to an increase in social anxiety. Another study showed that there was higher levels of hand movements when an interaction was occurring - social anxiety evidence.

Question 38

What is emotion regulation?

Answer 38

Automatic or intentional modification of a person's emotional state that promotes adaptive or goal-directed behaviour.

Question 39

What can problems with emotion regulation lead to?

Answer 39

``` Difficulty using adaptive/appropriate emotion regulation strategies. Reacting impulsively (e.g. temper outbursts). There are often interpreted as deliberate or defiant but may be due to inadequate management of emotion. ```

Question 40

What is the main NDD linked to emotion regulation problems?

Answer 40

Woodcock (2011) - Prader-Willi syndrome; more likely to show aggression and temper outbursts compared to fragile X. Fragile X tended to show higher levels of anxiety.

Question 41

What are the main NDDs linked to IQ problems?

Answer 41

Autism, TSC, NF1.

Question 42

What is the main NDD linked to social motivation problems?

Answer 42

Angelman syndrome.

Question 43

What is the main NDD linked to social anxiety problems?

Answer 43

CdLS.